NOTCH3 Mutations in CADASIL Alter Lipid Metabolism: Insights from Patient Plasma and In Vitro Models.

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common monogenic form of cerebral small vessel disease (CSVD), is caused by mutations in NOTCH3. However, the effects of NOTCH3 mutations on lipid metabolism remain poorly understood. In this study, plasma samples from CADASIL patients and matched healthy controls were subjected to lipidomic analysis....

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